Varaico: Literature-Extracted Genetic Variants

GLA

2,205 papers

RefSeq Summary

This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and i...

Pfam Domains

Melibiase_2aa 39–79UCSCAlpha galactosidase A

Melibiase_2aa 39–322UCSCAlpha galactosidase A

Melibiase_2_Caa 325–411UCSCAlpha galactosidase A C-terminal beta sandwich domain

Gene Aliases

HGNC Name

galactosidase alpha

HGNC Alias Symbol

GALA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000169.3

p.N53S

c.158A>G

Surrounding Variants

1 paper

NM_000169.3

p.N53I

c.158A>T

1 paper

NM_000169.3

p.N53T

c.158A>C

4 papers

NM_000169.3

p.N53K

c.159C>G

1 paper

NM_000169.3

p.N53fs

c.157_158fs

4 papers

NM_000169.3

p.N53K

c.159C>A

3 papers

NM_000169.3

p.N53Y

c.157A>T

6 papers

NM_000169.3

p.N53D

c.157A>G

1 paper

NM_000169.3

p.N53H

c.157A>C

1 paper

NM_000169.3

p.N53_L54insT

c.157_161ins3

12 papers

NM_000169.3

p.L54F

c.160C>T

4 papers

NM_000169.3

p.C52W

c.156C>G

2 papers

NM_000169.3

p.L54V

c.160C>G